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Retinal dysplasia, primary(PRD)

MedGen UID:
854679
Concept ID:
C3887971
Disease or Syndrome
Synonym: PRD
 
OMIM®: 312550

Clinical features

From HPO
Retinal dysplasia
MedGen UID:
48433
Concept ID:
C0035313
Congenital Abnormality
The presence of developmental dysplasia of the retina.
Falciform retinal fold
MedGen UID:
488857
Concept ID:
C0344550
Congenital Abnormality
An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.

Professional guidelines

PubMed

Fassad MR, Rumman N, Junger K, Patel MP, Thompson J, Goggin P, Ueffing M, Beyer T, Boldt K, Lucas JS, Mitchison HM
Hum Mol Genet 2023 Oct 17;32(21):3090-3104. doi: 10.1093/hmg/ddad132. PMID: 37555648Free PMC Article
Petersheim D, Massaad MJ, Lee S, Scarselli A, Cancrini C, Moriya K, Sasahara Y, Lankester AC, Dorsey M, Di Giovanni D, Bezrodnik L, Ohnishi H, Nishikomori R, Tanita K, Kanegane H, Morio T, Gelfand EW, Jain A, Secord E, Picard C, Casanova JL, Albert MH, Torgerson TR, Geha RS
J Allergy Clin Immunol 2018 Mar;141(3):1060-1073.e3. Epub 2017 Jun 17 doi: 10.1016/j.jaci.2017.05.030. PMID: 28629746Free PMC Article

Recent clinical studies

Etiology

Mirzayev I, Gündüz AK, Biçer Ö, Tarlan B
J Pediatr Ophthalmol Strabismus 2021 May-Jun;58(3):161-167. Epub 2021 May 1 doi: 10.3928/01913913-20210108-01. PMID: 34039153
Arriola-Lopez AE, Martinez-Perez ME, Martinez-Castellanos MA
J AAPOS 2017 Dec;21(6):488-491.e1. Epub 2017 Nov 22 doi: 10.1016/j.jaapos.2017.08.004. PMID: 29104139
Chene G, Radosevic-Robin N, Tardieu AS, Cayre A, Raoelfils I, Dechelotte P, Dauplat J, Penault Llorca F
Eur J Histochem 2014 Apr 15;58(2):2251. doi: 10.4081/ejh.2014.2251. PMID: 24998918Free PMC Article
Karp DD, Tsao AS, Kim ES
Semin Thorac Cardiovasc Surg 2003 Oct;15(4):405-20. doi: 10.1053/s1043-0679(03)00100-x. PMID: 14710383
Antcliff RJ, Spalton DJ
Ophthalmology 1999 Jul;106(7):1278-81. doi: 10.1016/S0161-6420(99)00708-3. PMID: 10406605

Diagnosis

Kagan KO, Tost F, Heling KS, Hoopmann M, Sonek J, Chaoui R
Ultraschall Med 2024 Oct;45(5):450-474. Epub 2024 Jun 7 doi: 10.1055/a-2318-5464. PMID: 38848751
Mirzayev I, Gündüz AK, Biçer Ö, Tarlan B
J Pediatr Ophthalmol Strabismus 2021 May-Jun;58(3):161-167. Epub 2021 May 1 doi: 10.3928/01913913-20210108-01. PMID: 34039153
Chene G, Radosevic-Robin N, Tardieu AS, Cayre A, Raoelfils I, Dechelotte P, Dauplat J, Penault Llorca F
Eur J Histochem 2014 Apr 15;58(2):2251. doi: 10.4081/ejh.2014.2251. PMID: 24998918Free PMC Article
Edward DP, Mafee MF, Garcia-Valenzuela E, Weiss RA
Radiol Clin North Am 1998 Nov;36(6):1119-31, x. doi: 10.1016/s0033-8389(05)70235-9. PMID: 9884692
Weiss AH, Kousseff BG, Ross EA, Longbottom J
Arch Ophthalmol 1989 Nov;107(11):1619-24. doi: 10.1001/archopht.1989.01070020697031. PMID: 2818283

Therapy

Javaid Z, Rehan SM, Al-Bermani A, Payne G
Scott Med J 2016 Aug;61(3):155-159. Epub 2015 Aug 4 doi: 10.1177/0036933015598124. PMID: 26246524
Chene G, Radosevic-Robin N, Tardieu AS, Cayre A, Raoelfils I, Dechelotte P, Dauplat J, Penault Llorca F
Eur J Histochem 2014 Apr 15;58(2):2251. doi: 10.4081/ejh.2014.2251. PMID: 24998918Free PMC Article
Cohen V, Khuri FR
Curr Opin Pulm Med 2004 Jul;10(4):279-83. doi: 10.1097/01.mcp.0000129754.97392.d5. PMID: 15220752
Karp DD, Tsao AS, Kim ES
Semin Thorac Cardiovasc Surg 2003 Oct;15(4):405-20. doi: 10.1053/s1043-0679(03)00100-x. PMID: 14710383
Watts P, Abdolell M, Levin AV
J AAPOS 2003 Apr;7(2):81-5. doi: 10.1016/mpa.2003.S1091853102420095. PMID: 12736618

Prognosis

Viehl L, Wegner DJ, Hmiel SP, White FV, Jain S, Cole FS, Wambach JA
Pediatr Nephrol 2023 Feb;38(2):605-609. Epub 2022 Jun 13 doi: 10.1007/s00467-022-05616-z. PMID: 35695966Free PMC Article
Szafarowski T, Sierdziński J, Ludwig N, Głuszko A, Filipowska A, Szczepański MJ
Eur J Pharmacol 2020 Jan 15;867:172837. Epub 2019 Dec 5 doi: 10.1016/j.ejphar.2019.172837. PMID: 31811857
Parisi MA
Am J Med Genet C Semin Med Genet 2009 Nov 15;151C(4):326-40. doi: 10.1002/ajmg.c.30229. PMID: 19876931Free PMC Article
Antcliff RJ, Spalton DJ
Ophthalmology 1999 Jul;106(7):1278-81. doi: 10.1016/S0161-6420(99)00708-3. PMID: 10406605
Mintz-Hittner HA, Ferrell RE, Sims KB, Fernandez KM, Gemmell BS, Satriano DR, Caster J, Kretzer FL
Ophthalmology 1996 Dec;103(12):2128-34. doi: 10.1016/s0161-6420(96)30379-5. PMID: 9003348

Clinical prediction guides

Viehl L, Wegner DJ, Hmiel SP, White FV, Jain S, Cole FS, Wambach JA
Pediatr Nephrol 2023 Feb;38(2):605-609. Epub 2022 Jun 13 doi: 10.1007/s00467-022-05616-z. PMID: 35695966Free PMC Article
Mirzayev I, Gündüz AK, Biçer Ö, Tarlan B
J Pediatr Ophthalmol Strabismus 2021 May-Jun;58(3):161-167. Epub 2021 May 1 doi: 10.3928/01913913-20210108-01. PMID: 34039153
Jiang H, Liang Y, Long K, Luo J
BMC Ophthalmol 2019 Jul 16;19(1):150. doi: 10.1186/s12886-019-1154-6. PMID: 31311513Free PMC Article
Arriola-Lopez AE, Martinez-Perez ME, Martinez-Castellanos MA
J AAPOS 2017 Dec;21(6):488-491.e1. Epub 2017 Nov 22 doi: 10.1016/j.jaapos.2017.08.004. PMID: 29104139
Chene G, Radosevic-Robin N, Tardieu AS, Cayre A, Raoelfils I, Dechelotte P, Dauplat J, Penault Llorca F
Eur J Histochem 2014 Apr 15;58(2):2251. doi: 10.4081/ejh.2014.2251. PMID: 24998918Free PMC Article

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